All transcript variants in gene MSH2


MSH2 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.
Information The variants shown are described using the NM_000251.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. _1 c.-19488_-14580del r.[NM_002354.2:r.-358_858::212_*279, NM_002354.2:r.-358_858::-4237_-4127ins212_*279] p.? - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deletion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; fusion transcript EPCAM/MSH2; MSH2 variants in tumor PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? - pathogenic g.47610843_47615751del g.47383704_47388612del - - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline yes - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes; wt allele lost in tumor PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? - pathogenic g.47610843_47615751del g.47383704_47388612del c.859-1462_*1999del - EPCAM_000001 4909 bp deleteion detected using MSH6 MLPA, unrelated families, shared founder haplotype; not in 194 control chromosomes PubMed: Ligtenberg 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1 c.-19488_-14580del r.? p.? - pathogenic g.47610843_47615751del g.47383704_47388612del MSH2:c.373C>T + EPCAM:c.859-1462_*1999del - EPCAM_000001 - Mensenkamp and Ligtenberg - - Germline - - - 0 - INSiGHT group
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